A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12185n54



Internal ID22780080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:65179929..65182257hg38UCSC Ensembl
chr8:66092164..66094492hg19UCSC Ensembl
chr8:66254718..66257046hg18UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg382329
hg192329
hg182329
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv611452, nsv611454, nsv611451, nsv611450, nsv611453
Samples
Known GenesLINC00251
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12185n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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